These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Giant axonal neuropathy: intermediate filament disease with involvement of the peripheral and central nervous system].
    Author: Buissonnière RF, Routon MC, Robain O, Ponsot G, Arthuis M.
    Journal: Rev Neurol (Paris); 1989; 145(5):355-61. PubMed ID: 2662338.
    Abstract:
    We report a case of giant axonal neuropathy in a 14 year-old turkish boy with progressive chronic neuropathy and central involvement with mental retardation. CT showed a low density and MRI imaging multiple cavities and hypersignals of the white matter. Nerve and skin biopsies revealed an accumulation of neurofilaments in axonal swellings and an accumulation of intermediate filaments in fibroblasts, Schwann cells, endothelial cells. These findings are in accordance with the reported cases. Giant axonal neuropathy results from a generalized disorder of the intermediate filaments, but the precise biochemical defect is unknown. We would agree with Maia (1988) to name this affection "Giant Axonal Disease".
    [Abstract] [Full Text] [Related] [New Search]